The Center for the Study of Human Genetics is concerned with goals in six interrelated areas: (1) collation and synopsis of information and/or concepts from various sources into manageable and useful packages, e.g., Catalog of Mendelian Inheritance in Man and Catalog of Chromosomal Variants and Anomalies; (2) elucidation of dynamics of genes in populations, especially pathologic alleles and particularly in the Amish; (3) analysis of the behavior of genes in families with special reference to the theoretical and practical aspects of genetic counseling; (4) delineation, principally at clinical-pathological-physiologic levels, of inherited disorders of connective tissue and skeleton; (5) detection and characterization of genetic variants; and (6) gene mapping (a) via study of selected families and by karyotypic and enzymatic analysis of somatic cell human x mouse hybrids, and (b) via extensive application of individual-chromosome-DNA-isolation techniques.